N21S (p.Asn21Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
N21S (p.Asn21Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Pachyonychia congenita 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- rs428894
- ClinGen CA6580955
- ClinVar RCV001731071
- ClinVar RCV003976123
- Benign
- Pachyonychia congenita 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.14
- CADD 8.96
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Benign (Pachyonychia congenita 4; not provided)
- EBI: Benign (in dbSNP:rs428894)
- UniProt: Benign (in dbSNP:rs428894)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate… (PMID 2410904)
- Cited in: Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PMID 7543104)